Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions causing confusion among non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment have significant consequences on the conditions’ development, and the patient’s health and quality of life. This delay in referral and treatment must be overcome.
The SPOT THE EARLY SIGNS education program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients. Following a Peer2Peer educational approach, the program targets to improve everyday practice and the way child healthcare professions advise and treat the children and families they support. Pediatricians and family doctors are likely to be the first healthcare professionals to observe symptoms, and it is important to help these front-line clinicians suspect, diagnose, and refer patients
Will you volunteer to organise an educational activity related to Metachromatic Leukodystrophy (MLD) and help the program's outreach? Work with us to present a webinar in English or in your national language, or to organise an educational activity in your facility.